Archives of pathology & laboratory medicine最新文献

Context.—: High-grade astrocytoma with piloid features (HGAP) is a newly recognized glioma defined by its methylation profile. Understanding of its clinical, histologic, and molecular characteristics continues to evolve.

Objective.—: To review the HGAP literature, emphasizing updates in our understanding of the entity since its codification in the 2021 World Health Organization (WHO) Blue Book. Additionally, to present a case series illustrating a single institutional experience with HGAP.

Data sources.—: The English-language HGAP literature from 2018 to 2024 was reviewed. Four cases of HGAP were reviewed, along with relevant medical records.

Conclusions.—: HGAP is an important consideration in the differential diagnosis of isocitrate dehydrogenase-wild-type gliomas and is more frequently encountered in adults. A handful of studies published following the entity's codification in the 2021 WHO Blue Book have refined our understanding of its clinical, histologic, and hallmark molecular characteristics. The most substantial updates include the description of 3 provisional subtypes, further characterization of an association with neurofibromatosis 1 syndrome, identification of new rare molecular alterations, and documentation of a unique case of possible transformation of pilocytic astrocytoma into HGAP. Clues to the diagnosis of HGAP include histologic infiltrating glioma with moderate pleomorphism, posterior fossa location, CDKN2A/B (cyclin dependent kinase inhibitor 2A/B) deletion, MAPK (mitogen-activated protein kinase) pathway alterations, ATRX (alpha thalassemia/mental retardation syndrome X-linked) loss, and association with neurofibromatosis 1 syndrome in some cases; these findings should prompt further molecular testing, including genome-wide DNA methylation analysis, which is currently essential for diagnosis.

Context.—: Complex surgical specimens are associated with complex Current Procedural Terminology (CPT) coding.

Objective.—: To assess and optimize the accuracy of CPT coding of complex genitourinary specimens at our institution.

Design.—: Baseline CPT codes for nephrectomy and cystectomy surgical pathology specimens were examined during a 3-month period. Pathology reports were reviewed for accurate CPT coding, and commensurate tests of change were implemented. Post-test-of-change data were re-collected, analyzed, and compared to the baseline data.

Results.—: Baseline data consisted of 71 genitourinary specimens (April to June 2021) and demonstrated undercoding in 46% (n = 33 of 71) of specimens, mostly in specimens with 2 or more billable organs. From findings in baseline data, we implemented test-of-change efforts consisting of awareness, education, and increased documentation and communication between all involved parties. Marked improvement was noted in the coding accuracy of specimens with 2 billable organs (pretest: n = 4 of 21, 19%; posttest: n = 14 of 21, 67%) and 3 or more billable organs (pretest: n = 0 of 16, 0%; posttest: n = 7 of 12, 58%) (P value = .002). Problematic areas included nephrectomy specimens resected with adrenal glands (pretest: n = 2 of 12, 17%; posttest: n = 12 of 14, 86%) and ureters for urothelial carcinoma (pretest: n = 0 of 10, 0%; posttest: n = 3 of 6, 50%), as well as regional lymph nodes commingled with resection specimens (pretest: n = 0 of 11, 0%; posttest: n = 7 of 9, 78%).

Conclusions.—: A comprehensive approach involving all stakeholders is necessary for CPT coding of complex surgical specimens. Documentation and familiarity with coding rules, specifically bundling and unbundling, as well as clinical indications for resection, are important factors in optimizing CPT coding.

Context.—: Generative artificial intelligence (AI) has emerged as a transformative force in various fields, including anatomic pathology, where it offers the potential to significantly enhance diagnostic accuracy, workflow efficiency, and research capabilities.

Objective.—: To explore the applications, benefits, and challenges of generative AI in anatomic pathology, with a focus on its impact on diagnostic processes, workflow efficiency, education, and research.

Data sources.—: A comprehensive review of current literature and recent advancements in the application of generative AI within anatomic pathology, categorized into unimodal and multimodal applications, and evaluated for clinical utility, ethical considerations, and future potential.

Conclusions.—: Generative AI demonstrates significant promise in various domains of anatomic pathology, including diagnostic accuracy enhanced through AI-driven image analysis, virtual staining, and synthetic data generation; workflow efficiency, with potential for improvement by automating routine tasks, quality control, and reflex testing; education and research, facilitated by AI-generated educational content, synthetic histology images, and advanced data analysis methods; and clinical integration, with preliminary surveys indicating cautious optimism for nondiagnostic AI tasks and growing engagement in academic settings. Ethical and practical challenges require being addressed by rigorous validation, prompt engineering, federated learning, and synthetic data generation to help ensure trustworthy, reliable, and unbiased AI applications. Generative AI can potentially revolutionize anatomic pathology, enhancing diagnostic accuracy, improving workflow efficiency, and advancing education and research. Successful integration into clinical practice will require continued interdisciplinary collaboration, careful validation, and adherence to ethical standards to ensure the benefits of AI are realized while maintaining the highest standards of patient care.

Context.—:

Objective.—: To report the isolation and significance of C kroppenstedtii, features of patients with GLM, pathologic findings and mechanism, bacteriologic workup, and optimal treatment.

Design.—: Analysis of the cases with C kroppenstedtii at The University of Texas MD Anderson Cancer Center from 2016 to March 2024 for mechanistic insights.

Results.—: During a period of 8 years, isolates of C kroppenstedtii were obtained from 10 women and 7 men. All of the women, with an average age of 34 years (range, 18-61 years), presented with chronic or subacute mastitis, and were subsequently diagnosed with GLM. The men, with an average age of 66 years, had neoplastic diagnoses with the bacterium being commensal in 6 cases. Thus, C kroppenstedtii shows a predilection to infect the female breast (P < .001). Predisposing risks for GLM included childbirth in 8 women and nipple inversion in 2 women. Histopathology revealed xanthogranulomatous inflammation and Gram-positive bacilli within fat droplets or extracellularly. From GLM aspirates or tissue, the liquid culture media and/or anaerobic incubation yielded 9 of 10 isolates. Up to 14 tested strains were susceptible to vancomycin, linezolid, rifampin, and gentamicin. Nine women received extensive antimicrobial therapy.

Conclusions.—:

Context.—: The College of American Pathologists Hematology and Clinical Microscopy Committee implemented a hemoglobinopathy proficiency testing and education program to monitor and assess the performance of participating laboratories.

Objective.—: To evaluate the performance of clinical laboratories for hemoglobinopathy proficiency testing from 2005 to 2023.

Design.—: The hemoglobinopathy challenges are composed of clinical case summaries and electrophoretic and chromatographic gel and tracing images. The participants are asked to determine (1) what hemoglobin chain is affected and (2) the hemoglobinopathy diagnosis.

Results.—: A total of 365 to 676 laboratories were enrolled in the proficiency testing program each year. Overall, the error rates for determination of the affected globin chain and a hemoglobinopathy diagnosis ranged from 0.6% to 56.5% and 0.5% to 86.5%, respectively. Twenty-three of 66 surveyed hemoglobinopathies (34.8%) had an error rate exceeding the consensus threshold of 20%. The globin gene detection error rate of the compound hemoglobinopathies was significantly higher when compared with just the α (P = .01) and β (P = .003) gene disorders. However, the error rate for the overall compound α/β-globin interpretation, although high at 23%, was not statistically significant when compared with just the α- or β-globin chain disorders. In repeat testing of the variants, there was no consistent improvement in performance.

Conclusions.—: The program participants demonstrated variable performance with one-third of the surveys exceeding the 20% error rate. The error rate for compound hemoglobinopathies was even higher. Our data illustrate a critical need for continuing educational efforts with an algorithmic approach to hemoglobin disorders.

Context.—: The co-occurrence of plasma cell neoplasm (PCN) and lymphoplasmacytic lymphoma (LPL) is rare, and their clonal relationship remains unclear.

Objective.—: To evaluate the clinicopathologic characteristics of concomitant LPL/PCN.

Design.—: Retrospectively analyzed clinical and laboratory data of 14 cases.

Results.—: Three patients initially presented with immunoglobulin (Ig) M paraprotein, 1 with IgG paraprotein, and 10 had simultaneous diagnoses of PCN and LPL. In 13 cases, flow cytometry detected both LPL and PCN in marrow biopsies. Furthermore, immunohistochemistry highlighted the 2 neoplastic populations, demonstrating an increased proportion of plasma cells and their expression of cyclin D1, CD56, and/or a non-IgM isotype restriction. All cases exhibited discordant heavy-chain isotypes between LPL and PCN. Thirteen of the 14 cases (92.9%) had concordant light-chain restrictions between the 2 neoplasms, and the remaining case (7.1%) showed discordant light-chain restrictions. Of the 12 patients with follow-up, 5 were treated with myeloma regimens, 2 with LPL regimens, 3 with combined therapy, and 2 with observation alone. Follow-up ranged from 2 to 146 months (median, 12.5 months). One patient died of PCN progression, one died of comorbidity, and 10 patients were alive with or without disease. Survival analysis showed no significant difference from the control.

Conclusions.—: The discordant heavy-chain isotype restrictions between PCN and LPL suggest biclonal B-cell neoplasms, which is supported by PCN's phenotypic distinction, such as the expression of cyclin D1 and/or CD56. However, our series exhibited a tendency toward concordant light-chain restrictions between the 2 neoplasms, raising the possibility that PCN may evolve from LPL through class switching.

Context.—: All member boards of the American Board of Medical Specialties have continuing certification (ie, maintenance of certification) programs. The efficacy of these programs has been questioned and, therefore, warrants study.

Objective.—: To determine if the American Board of Pathology CertLink program, as structured, is associated with an improvement in the performance of participants on the assessment of content that was previously missed (ie, inaccurately answered).

Design.—: We reviewed the performance of American Board of Pathology CertLink participants from January 2022 through December 2023 on the readministration of the content from 110 036 multiple-choice items that were previously missed by the participants in a program with enhanced learning strategies and incentives.

Results.—: The correct response rate upon the assessment of readministered content that was previously missed increased from 0% to 62.2% (68 394 of 110 036), which exceeds that which would be achieved by guessing (P < .001).

Conclusions.—: The American Board of Pathology CertLink program, which incentivizes learning and was constructed from adult learning principles and modern educational precepts to improve knowledge retention, interrupt forgetting, and introduce practice-relevant content, is associated with an improvement in the performance of diplomates on continuing certification knowledge assessments.

Context.—: Digital pathology requires pathologists to assess tissue digitally rather than on an analog microscope, which has been the mainstay tool for tissue assessment for more than a century. The impact of different digital interaction configurations on pathologists' performance is not well understood. This work focuses on the impact of the display window size for diagnostic assessment.

Objective.—: To determine the effect of digital image viewer window size on pathologists' diagnostic performance when searching for tumors in lymph nodes while under a time limit.

Design.—: Six pathologists assessed 8 breast lymph node whole slide images using 4 digital image viewer window sizes (8, 14, 24, and 32 inches) for tumors in lymph nodes while under a time limit. Eye-gaze data were collected. Pathologists were subsequently asked to rate their preference of window sizes.

Results.—: The fraction of window not covered with foveated vision was significantly associated with window size ranging from 43% for 32 inches to 5% for 8 inches (P < .001). There was no statistically significant relationship between the number of false negatives or assessment time and window size (P = .21 and P = .28, respectively). The distance traversed per panning instance ranged from 301 pixels for 32-inch to 193 pixels for 8-inch windows (P = .002). All pathologists preferred the largest window size as it provided more context for diagnostic assessment.

Conclusions.—: Window size does not significantly affect pathologists' diagnostic performance when searching for tumors in lymph nodes. However, pathologists adapted their slide navigation approach to accommodate the amount of context the window size permitted.

Context.—: Plexiform fibromyxomas are uncommon gastrointestinal neoplasms that have histologic and molecular features that overlap with other gastrointestinal mesenchymal tumors and present a diagnostic challenge for surgical pathologists.

Objective.—: To provide a review of the clinicopathologic, morphologic, immunohistochemical, and molecular features of plexiform fibromyxomas, with a brief discussion of key features that aid in differential diagnosis.

Data sources.—: Analysis of the pertinent literature (PubMed) and clinical practice experience based on institutional and consultation materials.

Conclusions.—: Plexiform fibromyxoma is a rare benign gastrointestinal mesenchymal tumor. Diagnosis is primarily based on morphology, immunohistochemistry, and the exclusion of other gastrointestinal mesenchymal tumors from the differential diagnosis.

Context.—: Interpretation of alkaline phosphatase (ALP) activity is essential for the diagnosis of certain diseases. ALP changes during life and may vary between different populations.

Objective.—: To establish reference intervals (RIs) and percentile charts for ALP activity in the Spanish population through a multicentric observational study and to compare the RIs to those defined in other countries.

Design.—: A total of 662 350 ALP measurements from individuals ages 0 to 99 years from 9 Spanish tertiary care centers collected between 2020 and 2022 were analyzed. This study is the largest published on this topic in the literature to date.

Results.—: Continuous percentile charts for ALP according to sex and age were established which can be used as RIs. Higher levels are reached during the first weeks of life. In puberty, a differential evolution is observed in both sexes, reaching a peak at 10 to 13 years of age in boys and remaining stable in girls at this age. Significant differences were also observed in adults, higher in men between ages 20 and 49 years and between ages 50 and 79 years in women, as reported in some countries.

Conclusions.—: ALP activity follows an age- and sex-dependent fluctuation with geographic differences. It is important to have appropriate reference values for each population in order to allow for a correct diagnostic interpretation and early diagnosis of diseases related to ALP abnormalities.